MitoTIP Sub-Scoring for Variant 3243G

MitoTIP Scoring Details


rCRS Position rCRS NT Query NT Numerical Scores Percentile Status
Variant Hx and Conservation Variant Location 2° Structure Prediction
3243 A G 11.500 1.848 0.000 13.348 58.80% confirmed pathogenic *
* Additional lines of evidence led to confirmation of pathogenicity for this tRNA variant. Examples of factors supporting confirmation of pathogencity: determination of heteroplasmy levels; correlation of heteroplasmy with phenotype; presence of variant in multiple unrelated affected families; functional cybrid studies; tRNA steady state levels; single fiber studies.

GenBank Frequency Information

L lineages
African
M lineages
Asian
N lineages
Eurasian
Highest hg lineage(s)
0.03% ( 2 / 6672 ) 0.01% ( 1 / 12461 ) 0.01% ( 6 / 41991 )
    V 0.11% ( 1 / 909 )